| 順位 （類似度） |
PMID (PMCID) |
|
|---|---|---|
| 1 (42.7%) |
28215594 |
Adult-onset Satoyoshi syndrome in a young male. Montanaro VV, Hora TF, Couto CM, Ribas FD. Neuromuscul Disord. 2017;27(4):382-384. |
| 開口障害 (牙関緊急) | ||
| Age of Onset Brazil ヒト 下痢 成人 攣縮 男 脱毛症 骨 | ||
| 2 (36.8%) |
12710092 |
[A case of Satoyoshi syndrome complicating marginal gingivitis of the mandible and dislocation of the temporomandibular joint]. Matsumura T, Yokoe M, Shinno S. Rinsho Shinkeigaku. 2002;42(9):889-91. |
| 歯肉炎 筋けいれん | ||
| ヒト 下顎骨 抜歯 歯肉炎 男 症候群 開口障害 関節 顎関節 骨 | ||
| 3 (32.7%) |
19839037 |
Satoyoshi syndrome with unusual skeletal abnormalities and parental consanguinity. Venegas-Vega CA, Rivera-Vega MR, Cuevas-Covarrubias S, Orozco J, Kofman-Alfaro S. Am J Med Genet A. 2009;149A(11):2448-51. |
| 無月経 骨幹端軟骨異形成 | ||
| ヒト 女 子供 子供（未就学） 成人 男 症候群 脱毛症 顔貌 骨 | ||
| 4 (21.2%) |
22612551 |
Satoyoshi syndrome: a cause of alopecia universalis in association with neurologic and bony abnormalities. Merino de Paz N, Rodriguez-Martin M, Contreras Ferrer P, Eliche MP, Noda Cabrera A. Pediatr Dermatol. 2013;30(3):e22-4. |
| 下痢 くる病 | ||
| ヒト 下痢 女 子供 攣縮 皮膚 脱毛症 誤診断 骨 骨溶解症 | ||
| 4 (21.2%) |
21301038 |
[Satoyoshi syndrome]. Satoyoshi E. Brain Nerve. 2011;63(2):141-6. |
| 無月経 骨格異形成 | ||
| Age of Onset ヒト 下痢 女 攣縮 男 脱毛症 若年成人 骨 | ||
| 4 (21.2%) |
9133353 |
Radiological and orthopedic abnormalities in Satoyoshi syndrome. Haymon M, Willis RB, Ehlayel MS, Lacassie Y. Pediatr Radiol. 1997;27(5):415-8. |
| 無月経 骨格異形成 | ||
| ヒト 女 成人 無月経 症候群 発達性骨疾患 筋痙縮 糖質コルチコイド 脱毛症 身長 骨 | ||
| 4 (21.2%) |
7573141 |
Satoyoshi syndrome: an unusual postnatal multisystemic disorder. Ehlayel MS, Lacassie Y. Am J Med Genet. 1995;57(4):620-5. |
| 無月経 骨格異形成 | ||
| ヒト 下痢 女 子供 成人 症候群 筋痙縮 脱毛症 表現型 鑑別診断 骨軟骨異形成症 | ||
| 8 (17.5%) |
28940615 |
Satoyoshi syndrome-A case report from India. Mani V, George R. Pediatr Dermatol. 2017;34(6):e296-e298. |
| 下痢 間歇的有痛性筋スパスム | ||
| India ヒト 下痢 女 子供 攣縮 糖質コルチコイド 脱毛症 骨 | ||
| 8 (17.5%) |
27011647 (4782532) |
Adult-onset Satoyoshi syndrome and response to plasmapheresis. Aghoram R, Srijithesh PR, Kannoth S. Ann Indian Acad Neurol. 2016;19(1):131-3. |
| 下痢 筋けいれん | ||
| 8 (17.5%) |
25500444 |
Adult-onset Satoyoshi syndrome with prominent laterality of clinical features. Ishihara M, Ogawa K, Suzuki Y, Kamei S, Ochiai T, Sonoo M. Intern Med. 2014;53(24):2811-6. |
| 筋けいれん | ||
| ヒト 下痢 中年 攣縮 男 皮膚 脱毛症 骨 |
合計: 24
| HPO ID | 徴候・症状 | 頻度 |
|---|---|---|
| HP:0000013 | 子宮低形成 | Very frequent (99-80%) |
| HP:0000130 | 子宮異常 | Very frequent (99-80%) |
| HP:0000137 | 卵巣異常 | Very frequent (99-80%) |
| HP:0000141 | 無月経 | Very frequent (99-80%) |
| HP:0000252 | 小頭 | Very frequent (99-80%) |
| HP:0000924 | 骨格の異常 | Very frequent (99-80%) |
| HP:0000944 | 骨幹端の異常 | Very frequent (99-80%) |
| HP:0001182 | 先細りの指 | Very frequent (99-80%) |
| HP:0001367 | 関節形態異常 | Very frequent (99-80%) |
| HP:0001595 | 毛髪の異常 | Very frequent (99-80%) |
| HP:0002289 | 全禿頭 | Very frequent (99-80%) |
| HP:0002815 | 膝の異常 | Very frequent (99-80%) |
| HP:0002823 | 大腿骨の異常 | Very frequent (99-80%) |
| HP:0002970 | 内反膝 | Very frequent (99-80%) |
| HP:0003019 | 手関節の異常 | Very frequent (99-80%) |
| HP:0003063 | 上腕骨の異常 | Very frequent (99-80%) |
| HP:0003272 | 寛骨の異常 | Very frequent (99-80%) |
| HP:0003307 | 前弯 | Very frequent (99-80%) |
| HP:0004322 | 低身長 | Very frequent (99-80%) |
| HP:0005930 | 骨端の異常 | Very frequent (99-80%) |
| HP:0008724 | 卵巣低形成 | Very frequent (99-80%) |
| HP:0009806 | 腎源性尿崩症 | Very frequent (99-80%) |
| HP:0011964 | 間歇的有痛性筋スパスム | Very frequent (99-80%) |
| HP:0200102 | 疎な/欠損した睫毛 | Very frequent (99-80%) |
合計: 9
| HPO ID | 徴候・症状 | 症例報告数 |
|---|---|---|
| HP:0003394 | 筋けいれん | 14 |
| HP:0002014 | 下痢 | 12 |
| HP:0002024 | 吸収障害 | 5 |
| HP:0000141 | 無月経 | 2 |
| HP:0002652 | 骨格異形成 | 2 |
| HP:0000230 | 歯肉炎 | 1 |
| HP:0002748 | くる病 | 1 |
| HP:0002958 | 免疫調節障害 | 1 |
| HP:0011964 | 間歇的有痛性筋スパスム | 1 |
合計: 0
| Gene Symbol | 遺伝子名 | Entrez Gene ID |
|---|